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Table 1 The major conventional imaging findings in Fabry disease

From: Neuroimaging in Fabry disease: current knowledge and future directions

  Conventional imaging findings
Stroke Increased prevalence of cerebrovascular events in FD, with predilection for females and young subjects [11] Frequently occurring before the diagnosis, in absence of other signs and symptoms of the underlying disorder [13] Neurological and neuroradiological findings classical and consistent with affected vascular territory [14] Haemorrhagic stroke is rare, whereas cerebral micro-bleeding more commonly observed (11–30% of cases) [15]
White matter hyperintensities Observed in up to 80% of patients [16], white matter hyperintensities are the most common neuroradiological finding in FD Non-specific distribution, with a variable periventricular, deep and/or subcortical white matter involvement [17] High lesion load can mimic other conditions, including multiple sclerosis. Relative sparing of midline and infratentorial structures can help in the differential diagnosis [18, 19] Long-term enzyme replacement therapy can apparently stabilise white matter lesion load [20,21,22]
Vertebro-basilar diameter Dilative arteriopathy of the vertebro-basilar system is a common, although inconstant, neuroradiological feature of FD [23] Vessel alterations include elongation, tortuosity, ectasia and focal aneurismal dilatation of vertebral and basilar arteries [24] Basilar artery elongation and dilatation seems to be an age-dependent phenomenon, more pronounced in FD patients [25] The increase in arterial diameters apparently show stability over time [26]
Pulvinar sign Unilateral or bilateral hyperintensity of the thalamic pulvinar on unenhanced T1-weighted brain MRI [27] Originally it was thought to be a common and pathognomonic sign of FD [28] Is a sign present in a low proportion of patients (3% of cases), mostly observed in male patients with severe renal involvement [29] Pulvinar sign should no longer be recognised as a neuroradiological finding characteristic of FD, due to its low incidence and specificity